Additional file 3: of miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Table S1. Predictive candidate miRNA binding sites on the human NOS1 3’UTR (DOCX 12 kb

Additional file 4: of miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Figure S1. Nuclear localization of nNOS in DMD muscular biopsy and in myoblasts. a) Control (ctrl) and DMD human muscular biopsy sections immunolabeled with anti-nNOS (red) antibody, nuclei with Dapi (blue), and imaged by confocal microscopy. Representative of 4 DMD patients. b) nNOS, GAPDH, and histone H3 (H3) immunoblots on cytoplasmic (CE) and nuclear (NE) protein extracts from control (ctrl) and DMDd45-52 myoblasts and total extract of control human muscular biopsy (ctrl biopsy). (TIFF 912 kb

Additional file 1: of miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Supplementary methods. (DOCX 12 kb

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

<div><p>Background</p><p>Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients.</p><p>Methods</p><p>We reviewed the charts of DMD followed at the Home Mechanical Ventilation Unit of the Raymond Poincare University Hospital.</p><p>Results</p><p>A total of 121 patients, aged from 18 to 41 years have been included in our study. Median vital capacity (VC) was 12% [7; 19.5] of predicted. Almost all patients were on home mechanical ventilation (95%). LBBB was present in 15 patients (13%); among them, 10 disclosed exonic deletions. After a median follow up of 6 years, 21 patients (17%) experienced acute heart failure (AHF), 7 patients (6%) supraventricular arrhythmia, 3 patients (2.4%) ventricular tachycardia, 4 patients (3%) significant electrical disturbances. LBBB was significantly associated with cardiac events (OR = 12.7; 95%CI [3.78–42.7]; p <0.0001) and mortality (OR = 4.4; 95%CI [1.44–13.7]; p 0.009). Presence of residual dystrophin protein was not associated with significant less cardiac events. Age and LVEF were also predictive factors for cardiac events and mortality.</p><p>Conclusion</p><p>LBBB is relatively frequent in DMD and is a major predictive factor for cardiac events and mortality. Presence of residual dystrophin protein was not associated with a lower incidence of cardiac events.</p></div

Bland-Altman plots for LVEF measurement (intra-observer variability analysis).

<p>LVEF: left ventricular ejection fraction.</p

Predictive factors for cardiac events using multivariable logistic regression.

<p>Predictive factors for cardiac events using multivariable logistic regression.</p

Clinical and genetic characteristics of the study population.

<p>Clinical and genetic characteristics of the study population.</p

Mutation location and left bundle branch block.

<p>Mutation location and left bundle branch block.</p

Predictive factors associated with cardiac events using univariate analysis.

<p>Predictive factors associated with cardiac events using univariate analysis.</p

Mutation location and cardiac events.

<p>Mutation location and cardiac events.</p